Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00488:Tcirg1'

14408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcirg1

Ensembl Gene

ENSMUSG00000001750

Gene Name

T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3

Synonyms

OC-116, TIRC7, V-ATPase a3, ATP6a3, Atp6i

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

IGL00488

Quality Score

Status

Chromosome

Chromosomal Location

3946050-3957133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3949108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 394 (I394L)

Ref Sequence

ENSEMBL: ENSMUSP00000120531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000122885] [ENSMUST00000126070] [ENSMUST00000145791] [ENSMUST00000135070] [ENSMUST00000128694]

AlphaFold

Q9JHF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001801
AA Change: I394L

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: I394L

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025760

SMART Domains

Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
Pfam:APH	108	373	2.4e-11	PFAM
Pfam:Choline_kinase	135	370	8.2e-82	PFAM
Pfam:EcKinase	211	345	2.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072055

SMART Domains

Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
Pfam:APH	108	358	6.4e-12	PFAM
Pfam:Choline_kinase	135	352	1.6e-84	PFAM
Pfam:EcKinase	190	329	2e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122885
AA Change: I49L

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750
AA Change: I49L

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	1	91	2.9e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125859

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126070
AA Change: I394L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: I394L

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	829	1.2e-277	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145791
AA Change: I394L

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: I394L

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	830	4.4e-287	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000132164

SMART Domains

Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	1	190	4.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159824

Predicted Effect

probably benign
Transcript: ENSMUST00000135070

SMART Domains

Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128694

SMART Domains

Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

Domain	Start	End	E-Value	Type
PDB:4DA5\|B	1	150	2e-60	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,248,478 (GRCm39)	S717T	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cchcr1	A	G	17: 35,839,469 (GRCm39)	D585G	possibly damaging	Het
Dnah6	A	T	6: 73,063,190 (GRCm39)	N2637K	possibly damaging	Het
Erg	C	A	16: 95,170,848 (GRCm39)		probably benign	Het
Mak	C	T	13: 41,209,165 (GRCm39)		probably benign	Het
Max	T	C	12: 76,985,404 (GRCm39)	S132G	probably damaging	Het
Nfam1	T	C	15: 82,907,185 (GRCm39)	Y4C	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Prkdc	T	A	16: 15,593,711 (GRCm39)		probably null	Het
Ptpn18	G	A	1: 34,502,200 (GRCm39)	R72K	probably damaging	Het
R3hcc1l	A	G	19: 42,552,391 (GRCm39)	I463V	probably benign	Het
Rapgef2	T	C	3: 78,999,332 (GRCm39)	E480G	possibly damaging	Het
Rictor	T	A	15: 6,816,071 (GRCm39)	D1114E	probably damaging	Het
Sestd1	A	G	2: 77,042,796 (GRCm39)	S253P	possibly damaging	Het
Slk	C	T	19: 47,608,148 (GRCm39)	T367I	probably benign	Het
Tasl	T	A	X: 84,931,985 (GRCm39)	Y184N	possibly damaging	Het
Ubn1	T	C	16: 4,899,778 (GRCm39)	S1097P	probably benign	Het
Ugt2b34	T	A	5: 87,040,818 (GRCm39)	H368L	probably damaging	Het
Wdr20rt	T	C	12: 65,272,744 (GRCm39)	V69A	possibly damaging	Het
Wnt16	T	C	6: 22,291,012 (GRCm39)	S147P	probably damaging	Het

Other mutations in Tcirg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Tcirg1	APN	19	3,954,210 (GRCm39)	splice site	probably benign
IGL03143:Tcirg1	APN	19	3,948,811 (GRCm39)	missense	probably damaging	1.00
R0732:Tcirg1	UTSW	19	3,947,866 (GRCm39)	missense	possibly damaging	0.56
R1131:Tcirg1	UTSW	19	3,946,301 (GRCm39)	missense	probably damaging	1.00
R1223:Tcirg1	UTSW	19	3,948,733 (GRCm39)	missense	probably benign	0.01
R1548:Tcirg1	UTSW	19	3,946,845 (GRCm39)	missense	probably benign	0.03
R1867:Tcirg1	UTSW	19	3,948,835 (GRCm39)	missense	probably damaging	1.00
R1926:Tcirg1	UTSW	19	3,952,843 (GRCm39)	intron	probably benign
R2262:Tcirg1	UTSW	19	3,953,591 (GRCm39)	missense	possibly damaging	0.89
R4367:Tcirg1	UTSW	19	3,949,069 (GRCm39)	missense	probably damaging	1.00
R5327:Tcirg1	UTSW	19	3,952,342 (GRCm39)	critical splice donor site	probably null
R5417:Tcirg1	UTSW	19	3,953,509 (GRCm39)	splice site	probably null
R5551:Tcirg1	UTSW	19	3,948,858 (GRCm39)	missense	probably damaging	1.00
R5930:Tcirg1	UTSW	19	3,952,424 (GRCm39)	missense	possibly damaging	0.95
R6026:Tcirg1	UTSW	19	3,947,487 (GRCm39)	missense	probably benign
R6517:Tcirg1	UTSW	19	3,951,933 (GRCm39)	missense	probably damaging	1.00
R7039:Tcirg1	UTSW	19	3,946,666 (GRCm39)	missense	probably damaging	1.00
R7181:Tcirg1	UTSW	19	3,953,576 (GRCm39)	missense	probably null	0.56
R7422:Tcirg1	UTSW	19	3,949,008 (GRCm39)	missense	possibly damaging	0.61
R7631:Tcirg1	UTSW	19	3,947,160 (GRCm39)	missense	probably damaging	1.00
R7768:Tcirg1	UTSW	19	3,952,900 (GRCm39)	missense	possibly damaging	0.91
R7899:Tcirg1	UTSW	19	3,949,104 (GRCm39)	missense	probably damaging	1.00
R8110:Tcirg1	UTSW	19	3,949,099 (GRCm39)	missense	probably damaging	1.00
R8535:Tcirg1	UTSW	19	3,946,324 (GRCm39)	missense	probably damaging	1.00
R9233:Tcirg1	UTSW	19	3,952,543 (GRCm39)	missense	probably damaging	1.00
R9292:Tcirg1	UTSW	19	3,947,840 (GRCm39)	missense	probably damaging	1.00
R9611:Tcirg1	UTSW	19	3,953,400 (GRCm39)	missense	probably benign	0.09
R9695:Tcirg1	UTSW	19	3,952,360 (GRCm39)	missense	probably null	0.69
Z1176:Tcirg1	UTSW	19	3,953,425 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06